Document Detail


Genetics of neuropathies.
MedLine Citation:
PMID:  23325310     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Hereditary neuropathies belong to the most common neurogenetic disorders. They appear mostly as sensory and motor neuropathies but there are also pure sensory, pure motor as well as sensory and autonomic hereditary neuropathies. In clinical practice, knowledge of hereditary neuropathies is important in order to recognize them among polyneuropathies and achieve a successful genetic diagnosis. The molecular genetics of hereditary neuropathies are very heterogeneous with currently more than 40 known disease-causing genes. The 4 most common genes account for almost 90% of the genetically diagnosed hereditary neuropathies. In this review article we provide an overview of the currently known genes and propose a rational genetic work-up protocol of the most common genes.
Authors:
B Gess; A Schirmacher; P Young
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-18
Journal Detail:
Title:  Der Nervenarzt     Volume:  -     ISSN:  1433-0407     ISO Abbreviation:  Nervenarzt     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-17     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0400773     Medline TA:  Nervenarzt     Country:  -    
Other Details:
Languages:  GER     Pagination:  -     Citation Subset:  -    
Affiliation:
Klinik für Neurologie, Sektion für Schlafmedizin und ambulante Neurologie, Universitätsklinikum Münster, Albert-Schweitzer Campus 1, Gebäude A1, 48149, Münster, Deutschland, burkhard.gess@gmail.com.
Vernacular Title:
Genetik der Neuropathien.
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